regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFDN_chr6_167821911_167977023 | 167951476 | A | AC | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG02622.hp2 others(6): Show |
a0002 | a0002c0013a0002c0014a0002c0017others(4): Show | a0002c0013t0001a0002c0013t0002a0002c0014t0001others(5): Show | a0002c0013t0001g0034a0002c0013t0002g0267a0002c0014t0001g0020others(6): Show | 9 | 326 | 0.0276 | 1 | c.412 others(5): Show |
p.Pro others(6): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 30/34 | 4350/7806 | 4128/5496 | 1376/1831 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
AGAP2_chr12_57720197_57743742 | 57737529 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG01109.hp1 HG01175.hp2 others(8): Show |
a0002 | a0002c0005a0002c0007a0002c0009 | a0002c0005t0001a0002c0005t0002a0002c0005t0013others(2): Show | a0002c0005t0001g0027a0002c0005t0001g0057a0002c0005t0001g0058others(5): Show | 11 | 382 | 0.0288 | 1 | c.717 others(4): Show |
p.Ala others(5): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1213/5430 | 717/3579 | 239/1192 | chr12 | TogoVar | ||
AICDA_chr12_8597170_8617859 | 8605412 | C | CG | frameshift_variant | HIGH | HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show |
a0002a0007 | a0002c0003a0002c0004a0007c0010 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(5): Show | a0002c0003t0001g0036a0002c0003t0001g0045a0002c0003t0001g0085others(21): Show | 27 | 458 | 0.0590 | 1 | c.229 others(4): Show |
p.Arg others(4): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/5 | 321/2803 | 229/597 | 77/198 | chr12 | TogoVar | ||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0002a0004a0011others(7): Show | a0002c0002a0004c0005a0004c0024others(8): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0004others(11): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(46): Show | 49 | 212 | 0.2311 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show |
a0000a0001a0002others(32): Show | a0000c0016a0001c0001a0001c0036others(40): Show | a0000c0016t0006a0001c0001t0001a0001c0001t0002others(46): Show | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(144): Show | 147 | 212 | 0.6934 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97245828 | TCAACTAA others(23686): Show |
T | exon_loss_variant | HIGH | HG02040.hp1 NA18965.hp2 NA19000.hp2 others(1): Show |
a0000 | a0000c0016 | a0000c0016t0006 | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(1): Show | 4 | 212 | 0.0189 | -23693 | c.516 others(10): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 72/76 | 5751/6534 | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0046a0002c0002others(20): Show | a0001c0001t0002a0001c0046t0002a0002c0002t0002others(22): Show | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(64): Show | 67 | 212 | 0.3160 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ARL1_chr12_101388116_101412772 | 101407641 | C | G | splice_donor_variant others(1): Show |
HIGH | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0135 | 1 | 398 | 0.0025 | 0 | c.4+1 others(3): Show |
ARL1 | ENSG00000120805.14 | transcript | ENST00000261636.13 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
ARL1_chr12_101388116_101412772 | 101407643 | C | A | start_lost others(1): Show |
HIGH | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0135 | 1 | 398 | 0.0025 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
ARL1 | ENSG00000120805.14 | transcript | ENST00000261636.13 | protein_coding | 1/6 | 130/3197 | 3/546 | 1/181 | chr12 | TogoVar | ||
ARL1_chr12_101388116_101412772 | 101407644 | A | C | start_lost others(1): Show |
HIGH | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0135 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ARL1 | ENSG00000120805.14 | transcript | ENST00000261636.13 | protein_coding | 1/6 | 129/3197 | 2/546 | 1/181 | chr12 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1636536 | AG | A | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0179 | 1 | 223 | 0.0045 | -1 | c.888 others(4): Show |
p.Ile others(5): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/9 | 1029/1330 | 888/1122 | 296/373 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AWAT2_chrX_70035542_70054938 | 70042219 | A | AG | frameshift_variant | HIGH | NA19072.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0036 | 1 | 338 | 0.0030 | 1 | c.814 others(4): Show |
p.Leu others(5): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 6/8 | 820/2124 | 814/1002 | 272/333 | chrX | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
C17orf50_chr17_35755887_35770079 | 35764504 | CGA | C | frameshift_variant | HIGH | NA18951.hp2 NA18964.hp1 NA18980.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015a0003c0003t0001g0016a0003c0003t0001g0116others(1): Show | 6 | 408 | 0.0147 | -2 | c.413 others(9): Show |
p.Glu others(5): Show |
C17orf50 | ENSG00000270806.2 | transcript | ENST00000605587.2 | protein_coding | 3/3 | 468/1041 | 413/525 | 138/174 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
C17orf80_chr17_73227433_73253959 | 73235569 | G | GATGATAG others(22): Show |
frameshift_variant others(1): Show |
HIGH | NA19072.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0127 | 1 | 384 | 0.0026 | 29 | c.89_ others(35): Show |
p.Lys others(4): Show |
C17orf80 | ENSG00000141219.16 | transcript | ENST00000535032.7 | protein_coding | 3/6 | 288/3618 | 118/1830 | 40/609 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41609948 | GA | G | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0027 | 1 | 164 | 0.0061 | -1 | c.111 others(5): Show |
p.Leu others(5): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/27 | 1676/8833 | 1110/2781 | 370/926 | chrX | TogoVar | ||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0.4110 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0098 | a0008c0098t0001 | a0008c0098t0001g0004 | 1 | 416 | 0.0024 | -98 | c.184 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001a0005a0006others(5): Show | a0001c0019a0001c0055a0001c0063others(19): Show | a0001c0019t0001a0001c0055t0001a0001c0063t0001others(19): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(20): Show | 23 | 416 | 0.0553 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0004a0005others(6): Show | a0001c0055a0001c0062a0001c0063others(19): Show | a0001c0055t0001a0001c0062t0001a0001c0063t0001others(19): Show | a0001c0055t0001g0001a0001c0062t0001g0007a0001c0063t0001g0003others(19): Show | 23 | 416 | 0.0553 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CFHR2_chr1_196938738_196964622 | 196950930 | AAATT | A | frameshift_variant | HIGH | HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0013a0002c0004t0001g0050a0002c0004t0001g0051 | 6 | 370 | 0.0162 | -4 | c.334 others(11): Show |
p.Ile others(5): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/5 | 477/1498 | 334/813 | 112/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CHRM1_chr11_62903679_62926363 | 62910396 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0004t0003a0002c0007t0001 | a0002c0004t0001g0058a0002c0004t0001g0064a0002c0004t0001g0088others(12): Show | 15 | 420 | 0.0357 | 1 | c.704 others(4): Show |
p.Gly others(5): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 2/2 | 928/2646 | 704/1383 | 235/460 | chr11 | TogoVar | ||
CLCN4_chrX_10151975_10242660 | 10214005 | T | TC | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0006 | a0003c0006t0027 | a0003c0006t0027g0248 | 1 | 264 | 0.0038 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/13 | 2306/6759 | 1906/2283 | 636/760 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585463 | G | GC | frameshift_variant | HIGH | NA19072.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0032 | 1 | 293 | 0.0034 | 1 | c.259 others(4): Show |
p.Leu others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 334/769 | 260/543 | 87/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154586628 | G | GT | frameshift_variant | HIGH | NA19072.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0032 | 1 | 293 | 0.0034 | 1 | c.512 others(4): Show |
p.Leu others(5): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 3/3 | 587/769 | 513/543 | 171/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTPS2_chrX_16582999_16717669 | 16689560 | AG | A | frameshift_variant | HIGH | NA19072.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0201 | 1 | 226 | 0.0044 | -1 | c.761 others(4): Show |
p.Pro others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/19 | 1135/3953 | 761/1761 | 254/586 | chrX | TogoVar | ||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(25): Show | 28 | 41 | 0.6829 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009a0002c0002t0001g0012a0002c0002t0001g0025others(19): Show | 22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24887215 | AATGGCAG others(4762): Show |
A | exon_loss_variant | HIGH | NA19072.hp1 NA19076.hp1 |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0001a0011c0010t0001 | a0005c0005t0001g0001a0011c0010t0001g0038 | 2 | 41 | 0.0488 | -4769 | c.178 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DEFA4_chr8_6930820_6943306 | 6936727 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 18 | 486 | 0.0370 | 0 | c.172 others(5): Show |
DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
DIPK2B_chrX_45143373_45205876 | 45157781 | G | GA | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0131 | 1 | 307 | 0.0033 | 1 | c.605 others(4): Show |
p.Thr others(5): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 3/5 | 655/4631 | 605/1302 | 202/433 | chrX | TogoVar | ||
DIPK2B_chrX_45143373_45205876 | 45157879 | T | TGG | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0131 | 1 | 307 | 0.0033 | 2 | c.506 others(9): Show |
p.Ser others(5): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 3/5 | 557/4631 | 507/1302 | 169/433 | chrX | TogoVar | ||
DIPK2B_chrX_45143373_45205876 | 45157886 | GC | G | frameshift_variant others(1): Show |
HIGH | NA19072.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0131 | 1 | 307 | 0.0033 | -1 | c.500 others(4): Show |
p.Gly others(5): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 3/5 | 550/4631 | 500/1302 | 167/433 | chrX | TogoVar | ||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EMD_chrX_154374295_154386523 | 154381077 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0010 | 1 | 284 | 0.0035 | -1 | c.648 others(4): Show |
p.Leu others(5): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 6/6 | 838/1281 | 648/765 | 216/254 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ENOX2_chrX_130617325_130908209 | 130670017 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 154 | 0.0065 | -1 | c.641 others(4): Show |
p.Pro others(5): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 7/15 | 1032/5126 | 641/1746 | 214/581 | chrX | TogoVar | ||
ENOX2_chrX_130617325_130908209 | 130670088 | T | TA | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 154 | 0.0065 | 1 | c.570 others(4): Show |
p.Met others(5): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 7/15 | 961/5126 | 570/1746 | 190/581 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250389 | T | TG | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | 1 | c.105 others(5): Show |
p.Met others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1143/1495 | 1059/1221 | 353/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254219 | C | CG | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | 1 | c.440 others(4): Show |
p.Gln others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 524/1495 | 440/1221 | 147/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254316 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | -1 | c.343 others(4): Show |
p.Gln others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 427/1495 | 343/1221 | 115/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254464 | AC | A | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | -1 | c.195 others(4): Show |
p.Ser others(4): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 279/1495 | 195/1221 | 65/406 | chrX | TogoVar |